Canonical Allele Identifier: CA1748889753

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332729G= , CM000669.2:g.143332729G=	GRCh38
NC_000007.13:g.143029822G= , CM000669.1:g.143029822G=	GRCh37
NC_000007.12:g.142739944G=	NCBI36
NG_009815.1:g.21604G=
NG_009815.2:g.21604G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1257G=	ENSP00000498052.2:p.Met419=
ENST00000343257.7:c.1257G= MANE Select	ENSP00000339867.2:p.Met419=
ENST00000432192.6:c.1081G=
ENST00000343257.6:c.1257G=	ENSP00000339867.2:p.Met419=
NM_000083.2:c.1257G=	NP_000074.2:p.Met419=
NR_046453.1:n.1341+226G=
XM_011515781.1:c.1281G=	XP_011514083.1:p.Met427=
XM_011515782.1:c.3G=	XP_011514084.1:p.Met1=
XM_011515782.2:c.3G=	XP_011514084.1:p.Met1=
XM_017011739.1:c.831G=	XP_016867228.1:p.Met277=
XM_017011740.1:c.807G=	XP_016867229.1:p.Met269=
NM_000083.3:c.1257G= MANE Select	NP_000074.3:p.Met419=
NR_046453.2:n.1356+226G=